Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
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Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeSystematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutationsNonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)Mitochondrial geneticsPseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirementsMtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver InjuryMutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunctionMatrix-assisted laser desorption/ionization mass spectrometry screening for pseudouridine in mixtures of small RNAs by chemical derivatization, RNase digestion and signature products.Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthoodPseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.Mass spectrometry of the fifth nucleoside: a review of the identification of pseudouridine in nucleic acids.A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.Pathogenic mutations of nuclear genes associated with mitochondrial disorders.Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.The Eye on Mitochondrial Disorders.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.A previously unidentified activity of yeast and mouse RNA:pseudouridine synthases 1 (Pus1p) on tRNAs.Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 geneMutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
P2860
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P2860
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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name
Mitochondrial myopathy, sidero ...... y a mutation in the PUS1 gene.
@en
Mitochondrial myopathy, sidero ...... y a mutation in the PUS1 gene.
@nl
type
label
Mitochondrial myopathy, sidero ...... y a mutation in the PUS1 gene.
@en
Mitochondrial myopathy, sidero ...... y a mutation in the PUS1 gene.
@nl
prefLabel
Mitochondrial myopathy, sidero ...... y a mutation in the PUS1 gene.
@en
Mitochondrial myopathy, sidero ...... y a mutation in the PUS1 gene.
@nl
P2093
P2860
P1476
Mitochondrial myopathy, sidero ...... y a mutation in the PUS1 gene.
@en
P2093
Avraham Zeharia
Hana Tamari
Kari Casas
Marc Mimouni
Nathan Fischel-Ghodsian
Yelena Bykhocskaya
P2860
P304
P356
10.1177/08830738050200051301
P577
2005-05-01T00:00:00Z